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Q8N6G6

- ATL1_HUMAN

UniProt

Q8N6G6 - ATL1_HUMAN

Protein

ADAMTS-like protein 1

Gene

ADAMTSL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 4 (15 Jun 2010)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei36 – 361Not glycosylated

    GO - Molecular functioni

    1. metallopeptidase activity Source: InterPro
    2. zinc ion binding Source: InterPro

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_200626. O-glycosylation of TSR domain-containing proteins.
    SignaLinkiQ8N6G6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ADAMTS-like protein 1
    Short name:
    ADAMTSL-1
    Alternative name(s):
    Punctin-1
    Gene namesi
    Name:ADAMTSL1
    Synonyms:ADAMTSR1, C9orf94
    ORF Names:UNQ528/PRO1071
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:14632. ADAMTSL1.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix 3 Publications

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi36 – 361W → A: Small reduction in secretion of ADAMTSL1. 1 Publication
    Mutagenesisi39 – 391W → A: Significant reduction in secretion of ADAMTSL1. 1 Publication
    Mutagenesisi39 – 391W → F: Abolishes secretion of ADAMTSL1. 1 Publication
    Mutagenesisi42 – 421W → A: Modest reduction in secretion of ADAMTSL1. 1 Publication
    Mutagenesisi42 – 421W → F: Abolishes secretion of ADAMTSL1. 1 Publication
    Mutagenesisi251 – 2511N → Q: Abolishes N-glycosylation. Reduces secretion of ADAMTSL1.
    Mutagenesisi312 – 3121T → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-391. Dramatic increase in secretion of ADAMTSL1; when associated with A-391 and A-451.
    Mutagenesisi385 – 3851W → A: Significant reduction in secretion of ADAMTSL1. 1 Publication
    Mutagenesisi385 – 3851W → F: No effect on secretion of ADAMTSL1. 1 Publication
    Mutagenesisi391 – 3911S → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-312. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-451.
    Mutagenesisi445 – 4451W → A: Modest reduction in secretion of ADAMTSL1. 1 Publication
    Mutagenesisi451 – 4511T → A: Small increase in secretion of ADAMTSL1. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-391.

    Organism-specific databases

    PharmGKBiPA24554.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Add
    BLAST
    Chaini29 – 17621734ADAMTS-like protein 1PRO_0000035860Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi39 – 391C-linked (Man)
    Glycosylationi42 – 421C-linked (Man)
    Disulfide bondi45 ↔ 76By similarity
    Glycosylationi48 – 481O-linked (Fuc...)2 Publications
    Disulfide bondi49 ↔ 81By similarity
    Disulfide bondi60 ↔ 66By similarity
    Glycosylationi251 – 2511N-linked (GlcNAc...)2 Publications
    Glycosylationi312 – 3121O-linked (Fuc...)2 Publications
    Glycosylationi391 – 3911O-linked (Fuc...)2 Publications
    Glycosylationi451 – 4511O-linked (Fuc...)2 Publications
    Disulfide bondi534 ↔ 578By similarity
    Disulfide bondi538 ↔ 583By similarity
    Disulfide bondi549 ↔ 567By similarity
    Disulfide bondi678 ↔ 723By similarity
    Disulfide bondi682 ↔ 728By similarity
    Disulfide bondi693 ↔ 712By similarity
    Disulfide bondi800 ↔ 844By similarity
    Disulfide bondi804 ↔ 849By similarity
    Disulfide bondi815 ↔ 832By similarity
    Disulfide bondi899 ↔ 947By similarity
    Disulfide bondi1202 ↔ 1250By similarity
    Disulfide bondi1308 ↔ 1353By similarity
    Disulfide bondi1418 ↔ 1469By similarity

    Post-translational modificationi

    C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion.3 Publications
    Disulfide bonds are present.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8N6G6.
    PRIDEiQ8N6G6.

    PTM databases

    PhosphoSiteiQ8N6G6.

    Expressioni

    Tissue specificityi

    Expressed primarily in adult skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ8N6G6.
    BgeeiQ8N6G6.
    CleanExiHS_ADAMTSL1.
    GenevestigatoriQ8N6G6.

    Organism-specific databases

    HPAiHPA048566.
    HPA057437.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000369921.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N6G6.
    SMRiQ8N6G6. Positions 34-296, 888-959, 1191-1532.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini33 – 8250TSP type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini376 – 42449TSP type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini436 – 49358TSP type-1 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini522 – 58463TSP type-1 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini607 – 66559TSP type-1 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini666 – 72964TSP type-1 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini788 – 85063TSP type-1 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini861 – 963103Ig-like C2-type 1Add
    BLAST
    Domaini1164 – 1266103Ig-like C2-type 2Add
    BLAST
    Domaini1286 – 136984Ig-like C2-type 3Add
    BLAST
    Domaini1395 – 148591Ig-like C2-type 4Add
    BLAST
    Domaini1545 – 160864TSP type-1 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini1666 – 172661TSP type-1 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini1726 – 176237PLACPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 PLAC domain.PROSITE-ProRule annotation
    Contains 9 TSP type-1 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG272362.
    HOVERGENiHBG068818.
    InParanoidiQ8N6G6.
    OMAiRWEIGKW.
    OrthoDBiEOG7TXKFQ.
    PhylomeDBiQ8N6G6.
    TreeFamiTF351125.

    Family and domain databases

    Gene3Di2.60.40.10. 4 hits.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003598. Ig_sub2.
    IPR013273. Peptidase_M12B_ADAM-TS.
    IPR010909. PLAC.
    IPR000884. Thrombospondin_1_rpt.
    [Graphical view]
    PfamiPF07679. I-set. 3 hits.
    PF08686. PLAC. 1 hit.
    PF00090. TSP_1. 8 hits.
    [Graphical view]
    PRINTSiPR01857. ADAMTSFAMILY.
    SMARTiSM00408. IGc2. 4 hits.
    SM00209. TSP1. 13 hits.
    [Graphical view]
    SUPFAMiSSF82895. SSF82895. 11 hits.
    PROSITEiPS50835. IG_LIKE. 4 hits.
    PS50900. PLAC. 1 hit.
    PS50092. TSP1. 9 hits.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q8N6G6-3) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MECCRRATPG TLLLFLAFLL LSSRTARSEE DRDGLWDAWG PWSECSRTCG     50
    GGASYSLRRC LSSKSCEGRN IRYRTCSNVD CPPEAGDFRA QQCSAHNDVK 100
    HHGQFYEWLP VSNDPDNPCS LKCQAKGTTL VVELAPKVLD GTRCYTESLD 150
    MCISGLCQIV GCDHQLGSTV KEDNCGVCNG DGSTCRLVRG QYKSQLSATK 200
    SDDTVVAIPY GSRHIRLVLK GPDHLYLETK TLQGTKGENS LSSTGTFLVD 250
    NSSVDFQKFP DKEILRMAGP LTADFIVKIR NSGSADSTVQ FIFYQPIIHR 300
    WRETDFFPCS ATCGGGYQLT SAECYDLRSN RVVADQYCHY YPENIKPKPK 350
    LQECNLDPCP ASDGYKQIMP YDLYHPLPRW EATPWTACSS SCGGGIQSRA 400
    VSCVEEDIQG HVTSVEEWKC MYTPKMPIAQ PCNIFDCPKW LAQEWSPCTV 450
    TCGQGLRYRV VLCIDHRGMH TGGCSPKTKP HIKEECIVPT PCYKPKEKLP 500
    VEAKLPWFKQ AQELEEGAAV SEEPSFIPEA WSACTVTCGV GTQVRIVRCQ 550
    VLLSFSQSVA DLPIDECEGP KPASQRACYA GPCSGEIPEF NPDETDGLFG 600
    GLQDFDELYD WEYEGFTKCS ESCGGGVQEA VVSCLNKQTR EPAEENLCVT 650
    SRRPPQLLKS CNLDPCPARW EIGKWSPCSL TCGVGLQTRD VFCSHLLSRE 700
    MNETVILADE LCRQPKPSTV QACNRFNCPP AWYPAQWQPC SRTCGGGVQK 750
    REVLCKQRMA DGSFLELPET FCSASKPACQ QACKKDDCPS EWLLSDWTEC 800
    STSCGEGTQT RSAICRKMLK TGLSTVVNST LCPPLPFSSS IRPCMLATCA 850
    RPGRPSTKHS PHIAAARKVY IQTRRQRKLH FVVGGFAYLL PKTAVVLRCP 900
    ARRVRKPLIT WEKDGQHLIS STHVTVAPFG YLKIHRLKPS DAGVYTCSAG 950
    PAREHFVIKL IGGNRKLVAR PLSPRSEEEV LAGRKGGPKE ALQTHKHQNG 1000
    IFSNGSKAEK RGLAANPGSR YDDLVSRLLE QGGWPGELLA SWEAQDSAER 1050
    NTTSEEDPGA EQVLLHLPFT MVTEQRRLDD ILGNLSQQPE ELRDLYSKHL 1100
    VAQLAQEIFR SHLEHQDTLL KPSERRTSPV TLSPHKHVSG FSSSLRTSST 1150
    GDAGGGSRRP HRKPTILRKI SAAQQLSASE VVTHLGQTVA LASGTLSVLL 1200
    HCEAIGHPRP TISWARNGEE VQFSDRILLQ PDDSLQILAP VEADVGFYTC 1250
    NATNALGYDS VSIAVTLAGK PLVKTSRMTV INTEKPAVTV DIGSTIKTVQ 1300
    GVNVTINCQV AGVPEAEVTW FRNKSKLGSP HHLHEGSLLL TNVSSSDQGL 1350
    YSCRAANLHG ELTESTQLLI LDPPQVPTQL EDIRALLAAT GPNLPSVLTS 1400
    PLGTQLVLDP GNSALLGCPI KGHPVPNITW FHGGQPIVTA TGLTHHILAA 1450
    GQILQVANLS GGSQGEFSCL AQNEAGVLMQ KASLVIQDYW WSVDRLATCS 1500
    ASCGNRGVQQ PRLRCLLNST EVNPAHCAGK VRPAVQPIAC NRRDCPSRWM 1550
    VTSWSACTRS CGGGVQTRRV TCQKLKASGI STPVSNDMCT QVAKRPVDTQ 1600
    ACNQQLCVEW AFSSWGQCNG PCIGPHLAVQ HRQVFCQTRD GITLPSEQCS 1650
    ALPRPVSTQN CWSEACSVHW RVSLWTLCTA TCGNYGFQSR RVECVHARTN 1700
    KAVPEHLCSW GPRPANWQRC NITPCENMEC RDTTRYCEKV KQLKLCQLSQ 1750
    FKSRCCGTCG KA 1762
    Length:1,762
    Mass (Da):193,409
    Last modified:June 15, 2010 - v4
    Checksum:i2822C0A367C2EF4E
    GO
    Isoform 1 (identifier: Q8N6G6-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         526-1762: Missing.

    Show »
    Length:525
    Mass (Da):58,416
    Checksum:i4D797F7ECBD4FC51
    GO
    Isoform 2 (identifier: Q8N6G6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         362-378: Missing.
         448-456: CTVTCGQGL → VTVPSFFVH
         457-1762: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:439
    Mass (Da):48,764
    Checksum:iB7155590915B3F3D
    GO
    Isoform 4 (identifier: Q8N6G6-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         670-683: WEIGKWSPCSLTCG → SSIDSAWNACNVLC
         684-1762: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:683
    Mass (Da):75,523
    Checksum:i49BFADA25E9EEBB5
    GO
    Isoform 5 (identifier: Q8N6G6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1299: Missing.
         1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL
         1549-1557: WMVTSWSAC → AMGLASGLT
         1558-1762: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:258
    Mass (Da):27,468
    Checksum:iD105728584BE2DE1
    GO
    Isoform 6 (identifier: Q8N6G6-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1299: Missing.
         1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL

    Show »
    Length:463
    Mass (Da):50,568
    Checksum:i044EA30A0BD28A00
    GO

    Sequence cautioni

    The sequence AAI00789.1 differs from that shown. Reason: Frameshift at position 1312.
    The sequence AAI00791.1 differs from that shown. Reason: Frameshift at position 1312.
    The sequence AAK34948.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti54 – 552SY → AN in AAK84170. (PubMed:11805097)Curated
    Sequence conflicti208 – 2081I → L in AAQ88693. (PubMed:12975309)Curated
    Sequence conflicti1409 – 14091D → G in BAC03925. (PubMed:14702039)Curated

    Mass spectrometryi

    Isoform 1 : Molecular mass is 61935±595 Da from positions 28 - 525. Determined by MALDI. 1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti242 – 2421S → N.
    Corresponds to variant rs776755 [ dbSNP | Ensembl ].
    VAR_017174

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 12991299Missing in isoform 5 and isoform 6. 2 PublicationsVSP_039322Add
    BLAST
    Alternative sequencei362 – 37817Missing in isoform 2. 1 PublicationVSP_039323Add
    BLAST
    Alternative sequencei448 – 4569CTVTCGQGL → VTVPSFFVH in isoform 2. 1 PublicationVSP_039324
    Alternative sequencei457 – 17621306Missing in isoform 2. 1 PublicationVSP_039325Add
    BLAST
    Alternative sequencei526 – 17621237Missing in isoform 1. 3 PublicationsVSP_039326Add
    BLAST
    Alternative sequencei670 – 68314WEIGK…SLTCG → SSIDSAWNACNVLC in isoform 4. 1 PublicationVSP_039327Add
    BLAST
    Alternative sequencei684 – 17621079Missing in isoform 4. 1 PublicationVSP_039328Add
    BLAST
    Alternative sequencei1300 – 131112QGVNV…NCQVA → MSGVFCFFFFFL in isoform 5 and isoform 6. 2 PublicationsVSP_039329Add
    BLAST
    Alternative sequencei1549 – 15579WMVTSWSAC → AMGLASGLT in isoform 5. 1 PublicationVSP_039330
    Alternative sequencei1558 – 1762205Missing in isoform 5. 1 PublicationVSP_039331Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176313 mRNA. Translation: AAK84170.1.
    AY358327 mRNA. Translation: AAQ88693.1.
    AK092602 mRNA. Translation: BAC03925.1.
    AK291956 mRNA. Translation: BAF84645.1.
    AL158150 Genomic DNA. Translation: CAO03592.1.
    AL353895, AL442638, AL449963 Genomic DNA. Translation: CAI14851.1.
    AL591423 Genomic DNA. No translation available.
    CH471071 Genomic DNA. Translation: EAW58656.1.
    BC030262 mRNA. Translation: AAH30262.1.
    BC100788 mRNA. Translation: AAI00789.1. Frameshift.
    BC100790 mRNA. Translation: AAI00791.1. Frameshift.
    AF251058 mRNA. Translation: AAK34948.1. Different initiation.
    CCDSiCCDS47954.1. [Q8N6G6-3]
    CCDS6485.1. [Q8N6G6-1]
    RefSeqiNP_001035362.3. NM_001040272.5. [Q8N6G6-3]
    NP_443098.3. NM_052866.4. [Q8N6G6-1]
    UniGeneiHs.741483.

    Genome annotation databases

    EnsembliENST00000276935; ENSP00000276935; ENSG00000178031. [Q8N6G6-4]
    ENST00000327883; ENSP00000327887; ENSG00000178031. [Q8N6G6-1]
    ENST00000380545; ENSP00000369918; ENSG00000178031. [Q8N6G6-6]
    ENST00000380548; ENSP00000369921; ENSG00000178031. [Q8N6G6-3]
    ENST00000380566; ENSP00000369940; ENSG00000178031. [Q8N6G6-2]
    ENST00000542621; ENSP00000440472; ENSG00000178031. [Q8N6G6-5]
    GeneIDi92949.
    KEGGihsa:92949.
    UCSCiuc003znb.3. human. [Q8N6G6-2]
    uc003znc.4. human. [Q8N6G6-1]
    uc003zne.4. human. [Q8N6G6-3]
    uc003znf.4. human. [Q8N6G6-6]

    Polymorphism databases

    DMDMi298286924.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF176313 mRNA. Translation: AAK84170.1 .
    AY358327 mRNA. Translation: AAQ88693.1 .
    AK092602 mRNA. Translation: BAC03925.1 .
    AK291956 mRNA. Translation: BAF84645.1 .
    AL158150 Genomic DNA. Translation: CAO03592.1 .
    AL353895 , AL442638 , AL449963 Genomic DNA. Translation: CAI14851.1 .
    AL591423 Genomic DNA. No translation available.
    CH471071 Genomic DNA. Translation: EAW58656.1 .
    BC030262 mRNA. Translation: AAH30262.1 .
    BC100788 mRNA. Translation: AAI00789.1 . Frameshift.
    BC100790 mRNA. Translation: AAI00791.1 . Frameshift.
    AF251058 mRNA. Translation: AAK34948.1 . Different initiation.
    CCDSi CCDS47954.1. [Q8N6G6-3 ]
    CCDS6485.1. [Q8N6G6-1 ]
    RefSeqi NP_001035362.3. NM_001040272.5. [Q8N6G6-3 ]
    NP_443098.3. NM_052866.4. [Q8N6G6-1 ]
    UniGenei Hs.741483.

    3D structure databases

    ProteinModelPortali Q8N6G6.
    SMRi Q8N6G6. Positions 34-296, 888-959, 1191-1532.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000369921.

    PTM databases

    PhosphoSitei Q8N6G6.

    Polymorphism databases

    DMDMi 298286924.

    Proteomic databases

    PaxDbi Q8N6G6.
    PRIDEi Q8N6G6.

    Protocols and materials databases

    DNASUi 92949.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000276935 ; ENSP00000276935 ; ENSG00000178031 . [Q8N6G6-4 ]
    ENST00000327883 ; ENSP00000327887 ; ENSG00000178031 . [Q8N6G6-1 ]
    ENST00000380545 ; ENSP00000369918 ; ENSG00000178031 . [Q8N6G6-6 ]
    ENST00000380548 ; ENSP00000369921 ; ENSG00000178031 . [Q8N6G6-3 ]
    ENST00000380566 ; ENSP00000369940 ; ENSG00000178031 . [Q8N6G6-2 ]
    ENST00000542621 ; ENSP00000440472 ; ENSG00000178031 . [Q8N6G6-5 ]
    GeneIDi 92949.
    KEGGi hsa:92949.
    UCSCi uc003znb.3. human. [Q8N6G6-2 ]
    uc003znc.4. human. [Q8N6G6-1 ]
    uc003zne.4. human. [Q8N6G6-3 ]
    uc003znf.4. human. [Q8N6G6-6 ]

    Organism-specific databases

    CTDi 92949.
    GeneCardsi GC09P018464.
    H-InvDB HIX0007941.
    HGNCi HGNC:14632. ADAMTSL1.
    HPAi HPA048566.
    HPA057437.
    MIMi 609198. gene.
    neXtProti NX_Q8N6G6.
    PharmGKBi PA24554.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272362.
    HOVERGENi HBG068818.
    InParanoidi Q8N6G6.
    OMAi RWEIGKW.
    OrthoDBi EOG7TXKFQ.
    PhylomeDBi Q8N6G6.
    TreeFami TF351125.

    Enzyme and pathway databases

    Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.
    SignaLinki Q8N6G6.

    Miscellaneous databases

    GeneWikii ADAMTSL1.
    GenomeRNAii 92949.
    NextBioi 77924.
    PROi Q8N6G6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N6G6.
    Bgeei Q8N6G6.
    CleanExi HS_ADAMTSL1.
    Genevestigatori Q8N6G6.

    Family and domain databases

    Gene3Di 2.60.40.10. 4 hits.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003598. Ig_sub2.
    IPR013273. Peptidase_M12B_ADAM-TS.
    IPR010909. PLAC.
    IPR000884. Thrombospondin_1_rpt.
    [Graphical view ]
    Pfami PF07679. I-set. 3 hits.
    PF08686. PLAC. 1 hit.
    PF00090. TSP_1. 8 hits.
    [Graphical view ]
    PRINTSi PR01857. ADAMTSFAMILY.
    SMARTi SM00408. IGc2. 4 hits.
    SM00209. TSP1. 13 hits.
    [Graphical view ]
    SUPFAMi SSF82895. SSF82895. 11 hits.
    PROSITEi PS50835. IG_LIKE. 4 hits.
    PS50900. PLAC. 1 hit.
    PS50092. TSP1. 9 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix."
      Hirohata S., Wang L.W., Miyagi M., Yan L., Seldin M.F., Keene D.R., Crabb J.W., Apte S.S.
      J. Biol. Chem. 277:12182-12189(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION, MASS SPECTROMETRY, DISULFIDE BONDS.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
      Tissue: Prostate.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 6).
      Tissue: Lung.
    7. Mao Y., Xie Y., Zhou Z., Zhao W., Zhao S., Wang W., Huang Y., Wang S., Tang R., Chen X., Wu C.
      Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 214-1762 (ISOFORM 4).
    8. "O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily."
      Wang L.W., Dlugosz M., Somerville R.P., Raed M., Haltiwanger R.S., Apte S.S.
      J. Biol. Chem. 282:17024-17031(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-251; THR-312; SER-391 AND THR-451, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
    9. "Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan."
      Wang L.W., Leonhard-Melief C., Haltiwanger R.S., Apte S.S.
      J. Biol. Chem. 284:30004-30015(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT TRP-39; TRP-42 AND THR-48, LACK OF GLYCOSYLATION AT TRP-36, SUBCELLULAR LOCATION, MUTAGENESIS OF TRP-36; TRP-39; TRP-42; TRP-385 AND TRP-445, IDENTIFICATION BY MASS SPECTROMETRY.

    Entry informationi

    Entry nameiATL1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6G6
    Secondary accession number(s): A6PVN1
    , A8K7E1, Q496M6, Q496M8, Q5T708, Q5VZT8, Q8NAI9, Q96RW4, Q9BXY3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2003
    Last sequence update: June 15, 2010
    Last modified: October 1, 2014
    This is version 113 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3